Canonical Allele Identifier: CA1979718700

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515704A= , CM000673.2:g.66515704A=	GRCh38
NC_000011.9:g.66283175A= , CM000673.1:g.66283175A=	GRCh37
NC_000011.8:g.66039751A=	NCBI36
NG_009093.1:g.10057A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.491A= MANE Select	ENSP00000317469.7:p.Glu164=
ENST00000318312.11:c.491A=	ENSP00000317469.7:p.Glu164=
ENST00000393994.4:c.491A=	ENSP00000377563.2:p.Glu164=
ENST00000419755.3:c.602A=	ENSP00000398526.3:p.Glu201=
ENST00000455748.6:c.432+1026A=	ENSP00000405764.2:n.432+1026A=
ENST00000524458.5:c.*151A=	ENSP00000436195.1:n.*151A=
ENST00000524907.5:n.587A=
ENST00000525809.5:c.218A=	ENSP00000431187.1:p.Glu73=
ENST00000526035.5:c.*198A=	ENSP00000434197.1:n.*198A=
ENST00000526760.5:c.*198A=	ENSP00000432140.1:n.*198A=
ENST00000527251.5:c.*198A=	ENSP00000434360.1:n.*198A=
ENST00000528543.1:n.13A=
ENST00000529766.5:n.498A=
ENST00000529953.5:n.143A=
ENST00000529955.5:n.462A=
ENST00000532908.5:c.*151A=	ENSP00000431866.1:n.*151A=
ENST00000533430.5:n.269A=
ENST00000533557.5:c.*151A=	ENSP00000434619.1:n.*151A=
ENST00000533644.5:c.444A=	ENSP00000436073.1:p.Arg148=
ENST00000534730.5:n.503A=
ENST00000630659.2:c.*198A=	ENSP00000486455.1:n.*198A=
NM_024649.4:c.491A=	NP_078925.3:p.Glu164=
NM_024649.5:c.491A= MANE Select	NP_078925.3:p.Glu164=